All terms in DOID

Label Id Description
Cowden syndrome 5 DOID_0081001 [A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26.]
obsolete lymphoid tissue disease DOID_70
torticollis SYMP_0000617
abnormal posture SYMP_0000618
loss of height SYMP_0000616
fever SYMP_0000613 [A neurological and physiological symptom that is characterized by a rise of body temperature above the normal, whether as a natural response (as to infection) or artificially induced for therapeutic reasons.]
periumbilic abdominal pain SYMP_0000611
abdominal pain SYMP_0000457 [A pain that is characterized by occurring in the abdomen, i.e. between the chest and groin.]
d-block element atom CHEBI_33561
metal atom CHEBI_33521
transition element atom CHEBI_27081
periumbilic abdominal rigidity SYMP_0000612
abdominal rigidity SYMP_0000454
bent bone dysplasia syndrome 2 DOID_0060993 [A bone remodeling disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft that has_material_basis_incompound heterozygous mutation in the LAMA5 gene on chromosome 20q13.]
bone remodeling disease DOID_0080005 [A bone disease that results_in formation or resorption abnormalities located_in bone.]
miliaria profunda DOID_0070320 [A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash.]
miliaria DOID_1382 [A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts.]
encephalopathy due to defective mitochondrial and peroxisomal fission 2 DOID_0060994 [A syndrome characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the MFF gene on chromosome 2q36.]
autosomal dominant isolated macrothrombocytopenia 2 DOID_0060995 [A thrombocytopenia that is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes that has_material_basis_in heterozygous mutation in the TUBA8 gene on chromosome 22q11.]
thrombocytopenia DOID_1588 [A blood platelet disease that is characterized by low a platelet count in the blood.]